What features do autism spectrum disorders have in common?
- Impaired social interaction
- Impaired verbal and non-verbal communication and impairment in imagination
- Restricted, repetitive, or stereotyped behaviour
What is the prevalence of ASD in children in the UK?
0.9%
What has happened to the prevalence of ASD in the UK?
Steady increase over the last 20 years
What is causing the increase in prevalence of ASD in the UK?
Difficult to know if increased awareness and identification, or true increase in number of children with ASD
How does the prevalence of ASD compare between boys and girls?
5x more common in girls
What proportional of children with ASD have an associated learning disability?
Approx half
What risk factors are associated with ASD?
- Family history of autism
- Preterm birth
- Parental mental health disorders
- Maternal use of sodium valproate in pregnancy
- Neonatal encephalopathy or epileptic encephalopathy
- Chromosomal disorders
- Other genetic disorders
- Muscular dystrophy
Which parental mental health disorders in particular are a risk factor for ASD?
Schizophrenia and related disorders
Give a chromosomal disorder that is a risk factor for ASD?
Down’s syndrome
Give 4 genetic disorders that are associated with an increased risk of ASD
- Neurofibromatosis
- Tuberous sclerosis
- Fragile X
- Smith-Lemli-Opitz syndrome
What should be looked for in the assessment of ASD?
- Neurocutaneous markers
- Self-harm, child neglect, or maltreatment
- Congenital anomalies or dysmorphic features
- Severe hearing or visual impairment
- Development regression
What might neurocutaneous markers indicate in the assessment of ASD?C
Conditions such as tuberous sclerosis or neurofibromatosis
What should be considered if developmental regression is found on assessment for ASD?
- Rett syndrome
- Epileptic encephalopathies
What is the rate of success in identifying a specific aetiological diagnosis in children with ASD?
6-15%
What genetic abnormalities have been found with ASD?
Numeous cytogenetically detected deletions and duplications
What has cytogenetic testing been superseded by in ASD?
Microarray-CGH
What is microarray-CGH able to detect?
Copy number variants in the genome
What % of individuals with ASD have clinically significant copy number variants?
10%
What features accompanying ASD increase the chance of finding copy number variants?
- Microcephaly
- Epilepsy
- Congenital abnomalies
- Dysmorphic features
What is the chance of finding copy number variants in patients with ASD and other clinical features such as epilepsy, microcephaly etc
30%
What is the management of ASD based upon?
The clinical manifestation of the disorder
What might the management of children with ASD include?
- Interventions for core features of ASD
- Interventions for mental health and medical co-morbidities
- Interventions for behavioural difficulties
What is the role of medication in ASD?
May be effectively used to treat specfic co-morbidities, but should not be used in the core management of ASD
What is the role of exclusion diets in the management of ASD?
None
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Primitive Reflexes ✅20
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Senses ✅93
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Cognitive Theory ✅16
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Studying Normal Development ✅30
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Speech And Language Development ✅20
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Developmental Screening Tools ✅51
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Developmental Red Flags ✅32
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Patterns Of Development ✅16
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Healthy Child Programme ✅22
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Definitions And Numbers In Developmental Problems ✅19
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Causes of Developmental Problems ✅21
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Central Hypotonia ✅46
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Cerebral Palsy ✅73
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Neuromuscular Problems ✅103
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Common Medical Issues In Neurodisability ✅115
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Sensory Development ✅24
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Global Developmental Impairment And Learning Disability ✅38
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Developmental Regression ✅73
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ADHD ✅64
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Autism ✅24
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Developmental Coordination Disorder ✅9
